Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.A156D

GAMT

201 papers

RefSeq Summary

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologi...

Pfam Domains

GuanidinoAc_N-MeTrfaseaa 8–236UCSCGuanidinoacetate N-methyltransferase

Gene Aliases

HGNC Name

guanidinoacetate N-methyltransferase

HGNC Alias Symbols

PIG2; TP53I2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000156.6
p.A156D
c.467C>A
Surrounding Variants
1 paper
NM_000156.6
p.A156G
c.467C>G
1 paper
NM_000156.6
p.A156T
c.466G>A
1 paper
NM_000156.6
p.F157L
c.469T>C
1 paper
NM_000156.6
p.A156_F157del1
c.467_469delAGG
1 paper
NM_000156.6
p.F157L
c.471T>G
1 paper
NM_000156.6
p.F157L
c.471T>A
1 paper
NM_000156.6
p.K153_N154Splc
c.460-1G>A
1 paper
NM_000156.6
p.L159L
c.475C>T
3 papers
NM_000156.6
p.L159P
c.476T>C
1 paper
NM_000156.6
p.P162Q
c.485C>A
1 paper
NM_000156.6
p.G163A
c.488G>C
7 papers
NM_000156.6
p.G164fs
c.490_491fs
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